Canonical Allele Identifier: CA398222352

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896313T>G (hg19) ; chr17:g.12992996T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992996T>G , CM000679.2:g.12992996T>G	GRCh38
NC_000017.10:g.12896313T>G , CM000679.1:g.12896313T>G	GRCh37
NC_000017.9:g.12837038T>G	NCBI36
NG_015808.1:g.30069A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2303A>C MANE Select	ENSP00000337445.4:p.Lys768Thr
ENST00000338034.8:c.2303A>C	ENSP00000337445.4:p.Lys768Thr
ENST00000395962.6:c.2246A>C	ENSP00000379291.1:p.Lys749Thr
ENST00000426905.7:c.2183A>C	ENSP00000405223.3:p.Lys728Thr
ENST00000465825.5:n.2190A>C
ENST00000480891.5:n.2132A>C
ENST00000484122.5:n.3133A>C
ENST00000487229.6:n.1849A>C
ENST00000584650.5:c.1702A>C
NM_001165962.1:c.2183A>C	NP_001159434.1:p.Lys728Thr
NM_018127.6:c.2303A>C	NP_060597.4:p.Lys768Thr
NM_173717.1:c.2300A>C	NP_776065.1:p.Lys767Thr
XM_024450850.1:c.2462A>C	XP_024306618.1:p.Lys821Thr
XM_024450851.1:c.2384A>C	XP_024306619.1:p.Lys795Thr
XM_024450852.1:c.2381A>C	XP_024306620.1:p.Lys794Thr
XM_024450853.1:c.2378A>C	XP_024306621.1:p.Lys793Thr
XM_024450854.1:c.2342A>C	XP_024306622.1:p.Lys781Thr
XM_024450855.1:c.2261A>C	XP_024306623.1:p.Lys754Thr
XM_024450856.1:c.2180A>C	XP_024306624.1:p.Lys727Thr
XM_024450857.1:c.2180A>C	XP_024306625.1:p.Lys727Thr
XM_024450858.1:c.2099A>C	XP_024306626.1:p.Lys700Thr
XM_024450859.1:c.2096A>C	XP_024306627.1:p.Lys699Thr
XM_024450860.1:c.2021A>C	XP_024306628.1:p.Lys674Thr
XM_024450861.1:c.2021A>C	XP_024306629.1:p.Lys674Thr
XM_024450862.1:c.2018A>C	XP_024306630.1:p.Lys673Thr
NM_018127.7:c.2303A>C MANE Select	NP_060597.4:p.Lys768Thr
NM_001165962.2:c.2183A>C	NP_001159434.1:p.Lys728Thr
NM_173717.2:c.2300A>C	NP_776065.1:p.Lys767Thr